Down syndrome: symptoms, causes, drugs, etc. • hello healthy

x

Definition

What is Down syndrome (Down syndrome)?

Down syndrome also known as Down's syndrome is a genetic disorder that occurs when a baby in the womb has excess chromosomes.

Normally, humans have 46 chromosomes in each cell, 23 inherited from the mother and 23 inherited from the father. People with conditions down syndrome has 47 chromosomes in each cell.

This excess of chromosomes also causes learning disabilities and makes the person experiencing it experience distinctive physical characteristics.

Down syndrome is a lifelong condition. However, with proper treatment, people with Down's syndrome can grow up in a healthy and productive environment.

Health risks of children with Down syndrome

People with Down syndrome are generally at risk for several medical conditions, such as:

• GERD
• Gluten intolerance
• Hypothyroidism
• Congenital heart defects

Children born with Down syndrome also often experience hearing and vision problems.

Delayed growth and behavioral problems are frequently reported in children with Down syndrome.

These behavioral problems can include difficulty focusing, obsessive / compulsive behavior, stubbornness, or emotionality.

A number of children who experienced d own syndrome also diagnosed with autism spectrum disorder, which affects how they communicate and interact with others.

As people get older, people with Down syndrome are also at risk of experiencing decreased thinking skills that are often associated with Alzheimer's disease.

In addition, children with this condition also experience brain disorders which result in gradual memory loss.

How common is this condition?

Down syndrome aka Down's syndrome is one of the most common genetic disorders. About 1 in 800 newborns are thought to have this condition.

This condition can occur since the early days of life. Any woman of any age can be at risk of developing a child with Down syndrome as she gets older.

With proper care, people with Down's syndrome can live healthy lives and are able to carry out various daily routines independently.

Signs & symptoms

What are the signs and symptoms Down syndrome ?

Some of the common symptoms of down syndrome (Down syndrome) are as follows:

• A typical facial appearance, for example, has flat nose bones and small ears
• The head size is smaller and the back is flat
• The eye is slightly raised upward with a fold of skin exiting the upper eyelid and covering the inner corner of the eye
• White spots appear on the black part of the eyes (called Brushifield spots)
• The neck is short with the skin on the back of the neck looking slightly loose
• Small mouth and protruding tongue
• Muscles are less well formed
• There is a gap between the first and second toes
• The palm is wide with short fingers and one crease on the palm
• Lower weight and height than average

The physical development of children with this condition also tends to be slower than children who were not born with Down syndrome.

Some of the reasons are because the muscles are not properly developed, a child with this condition may be slower to learn to lie on his stomach, sit, stand, and walk.

Apart from affecting physical appearance, this condition also results in impaired cognitive development of children, including thinking and learning problems.

Cognitive and behavioral problems often experienced by children with Down syndrome are:

• Difficulty focusing, concentrating, and solving problems
• Obsessive / compulsive behavior
• Stubborn
• Emotional

However, there are possible signs and symptoms d own syndrome which was not mentioned above.

When should I see a doctor?

You should immediately take your little one to the doctor if he complains of the following conditions:

• Stomach disorders such as stomach pain, nausea, or vomiting.
• Heart problems, such as discoloration of the lips and fingers turning bluish or purplish, difficulty breathing.
• Difficulty eating or having trouble doing things all of a sudden.
• Acting weird or not being able to do something that would normally be possible.
• Indicates a mental problem, such as anxiety or depression.

Immediately to the doctor if the child experiences the above.

Cause

What causes Down syndrome?

As explained earlier, causes d own syndrome is a disease that can be caused by abnormal cell division.

Human cells usually contain 46 chromosomes, half of which come from the mother and half from the father.

Down syndrome occurs when a baby has additional chromosomes that are formed during the development of the mother's egg, sperm from the father, or during the embryo period, which is the forerunner of the baby.

Down syndrome making the baby have 47 chromosomes in each cell instead of the normal 46 pairs.

Risk factors

What puts children at risk for Down syndrome?

Some of the factors that can increase the risk of having a Down syndrome child are as follows:

Genetic history

In most cases, Down syndrome is not inherited. This condition occurs due to an error in cell division during the early development of the fetus. It is not known the exact reason why this error can occur.

It's just that, in translocation Down Syndrome, genetic disorders that are inherited from parents can be the strongest cause.

Without realizing it, both men and women can carry d own syndrome in his genes.

These genetic carriers are referred to as carrier . A carrier (carrier) may not show symptoms of Down's syndrome in life.

However, they may pass on this genetic defect to the fetus, causing the fetus to have an extra chromosome 21.

In general, this genetic risk depends on the sex of the parent carrying chromosome 21. Here's a picture:

• Carrier comes from the mother, the risk the fetus experiences down syndrome about 10-15 percent.
• Carrier comes from the father, the risk the fetus experiences down syndrome about 3 percent.

Therefore, before you and your partner decide to plan a pregnancy, you should first do genetic screening.

Maternal age at pregnancy

The age of a woman at pregnancy affects the health and safety of the fetus in her womb.

Although this condition can occur at any age, women have a higher risk of giving birth to a child with this syndrome when pregnant at the age of 35 years and over.

Chances of a woman carrying a baby Down syndrome is 1 in 800 if they get pregnant by the age of 30.

This chance will increase to 1 in 350 if they get pregnant at the age of 35 years and over.

The risk will increase with age. When a woman becomes pregnant at the age of 49, the woman's risk of conceiving a baby Down syndrome is 1:10.

Even so, there are also a number of women under the age of 35 who give birth to children with Down syndrome .

It is not known exactly what causes it, but this is thought to be due to an increase in the birth rate at a young age.

A history of giving birth to a Down syndrome baby

A woman's risk of having a baby with Down's syndrome increases if she has previously given birth to a baby with the same condition.

Even so, this one risk factor is indeed low, which is only around 1 percent.

In addition, the risk of a woman giving birth to a baby with this syndrome also increases based on the range of gestational age between the previous child and the baby that was conceived.

Research results by Markus Neuhäuser and Sven Krackow from the Institute of Medical Informatics, Biometry and Epidemiology at University Hospital Essen, Germany, show the same thing.

The result, the farther the distance between pregnancies, the higher the risk of having a Down syndrome baby.

Lack of folic acid

One of the factors that increase the risk of Down syndrome is folic acid deficiency during pregnancy.

Down syndrome can be triggered by the body's metabolism that is less than optimal to break down folic acid.

The decrease in folic acid metabolism can affect the epigenetic regulation to form chromosomes.

Folic acid itself has a very important role in the development of the baby's brain and spinal cord.

In fact, when you don't know that you are pregnant, the baby's brain and spinal cord have started to form.

With sufficient folic acid content, pregnant women have helped the formation of the baby's brain and spinal cord optimally.

Therefore, to avoid this, make sure you meet your folic acid needs when planning to become pregnant.

Medicines & Medicines

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

What are the treatment options for Down syndrome?

According to Julie Hughes on the Down Syndrome Educational International page, there are several tips to improve children's memory abilities down syndrome , including:

1. Deal with hearing problems experienced by children

If your little one has hearing loss, this will make it difficult for him to learn to remember. The child may be able to see the lips, but it is difficult to make out the sound of the words.

Therefore, parents need to work with doctors to treat hearing problems that are owned by children.

You can reduce surrounding noise so that your little one can hear voices more clearly.

2. Teach children to distinguish sounds when speaking

The next step is to improve the child's memory ability down syndrome is to teach him to distinguish the various sounds of a word.

It begins with encouraging your child to babble by inviting him to chat.

You can introduce various animal sounds or objects around you. After entering the age of one year, children usually begin to be able to copy certain words that have meaning, for example milk.

So that your child doesn't get to know the word wrong, you have to distinguish each word that is spoken. Remember, there are many words that sound almost the same, like milk on nails or cheeks with aunt.

Apart from conversations, you can also teach this with games. You can also enter children into preschool age and needs.

3. Install tricks so that children can focus

To increase your little one's attention, you need to make direct gaze on your little one while talking.

Try to align your face with the child. Put your face on the shoulder and say the words or information you want to convey.

When you have your little one's full attention, ask him to sit quietly and follow every word you say.

At the beginning of the exercise your little one will probably divert his attention several times from you. However, if you do this often, your child will get used to it over time.

4. Teach children to remember more

You can ask your child to remember animal names, fruit names, numbers, and new words.

This activity can be done through reading books with children, playing musical instruments, or singing songs together.

What are the usual tests for this condition?

The most effective way to diagnose Down syndrome is by doing two ways, namely:

Screening test

You can do a screening test in the early trimester of pregnancy, in three ways.

First, a blood test that will measure the levels of plasma protein-A (PAPP-A) and the pregnancy hormone human chorionicgonadotropin / hCG).

An abnormal amount of these two hormones can indicate a problem with the baby.

Second, an ultrasound examination performed after entering the second trimester of pregnancy that will help identify any abnormalities in the development of the baby.

Third, a nuchal translucency test that is generally combined with ultrasound that will check the thickness of the neck behind the fetus.

Too much fluid in this area indicates an abnormality in the baby.

Screening may not be able to give accurate results regarding Down syndrome, but at least it can provide a specific picture if the baby has this risk.

Diagnostic test

Compared to screening tests, the results of diagnostic tests are much more accurate as a way of detecting Down syndrome in infants.

But not for all women, this test is usually more intended for pregnant women whose babies are thought to be at high risk of experiencing abnormalities during pregnancy, including down syndrome .

Thus, when the results of the screening test for pregnant women lead to down syndrome .

There are two diagnostic tests, the first is amniocentesis. This is done by inserting a needle through the mother's uterus.

The goal is to take a sample of the amniotic fluid that protects the fetus. The sample obtained is then analyzed to find out any abnormal chromosomes. This procedure can be done during 15-18 weeks of pregnancy.

Second, Chorionic villus sampling (CVS) which is almost similar to amniocentesis.

The difference is, this procedure is done by inserting a needle to take a cell sample from the baby's placenta and can be done within 9-14 weeks of pregnancy.

Home remedies

What are some lifestyle changes or home remedies for Down syndrome?

Down syndrome is an untreatable condition. If your child is diagnosed with this condition, it may be difficult for you.

Therefore, you need to find support sources where you can learn basic information about down syndrome and how to care for and develop children's skills, such as:

• Seek professional experts or people who have the same problem to share information and solutions
• Do not despair because there are many children with Down syndrome can live happily and do things that are productive and useful for those around.

If you have questions about Down syndrome, consult your doctor for the best solution to your problem.